By Dr. Nitin Agarwal: Fanconi anemia (FA) is a rare genetic disorder that affects the bone marrow’s ability to produce blood cells. It is an inherited condition and can cause serious health problems — including developmental abnormalities, bone marrow failure and a greater risk of cancer. Early diagnosis and treatment provides an opportunity for second chance at life.
FA is found to be more prevalent in populations, including South Africans, sub-Saharan Africans, Spanish Gitanos, US Ashkenazi Jews, and Europeans, due to inherited genetic mutations. In India, FA occurs in approximately 1 in 3,50,000 live births. The Government of India has acknowledged it as a rare disease under the National Policy for Rare Diseases. Hence, it enables eligible patients to receive financial assistance for treatment.
Fanconi Anaemia is caused by mutations in genes responsible for DNA repair, meaning body’s ability to fix damaged DNA is impaired, leading to abnormal cell growth and function. Furthermore, it is an autosomal recessive disorder, which means this condition occurs when a child inherits a defective gene from both parents.
Symptoms And Early Signs
FA is a multi-system disease, requiring a comprehensive and interdisciplinary approach to clinical care and treatment. Symptoms of FA will differ from case to case, but some of the most common ones include:
- Decrease in red blood cells, white blood cells that help in fighting infections, and platelets that help in blood clotting. This leads to episodes of fatigues, high incidence of infection and excessive bruising or bleeding, and bone marrow failure.
- Children born with FA condition have birth defects such as short stature, missing thumb, pigmentation differences on their skin, skeletal abnormalities, and defects in kidney or heart.
- Children with FA condition have higher risk of developing cancer (Acute myeloid leukemia, Myelodysplastic syndrome), tumours in head, neck and reproductive systems.
Diagnosis And Testing
Because FA affects multiple organs in the body, diagnosing it requires specialised tests. The tests include:
- Chromosome breakage test is the most common test. In this, the cells are exposed to chemicals that induce damage to DNA and if it is reported that cells fail to repair themselves properly, the case of FA is suspected.
- Genetic testing helps in identifying mutations in FA-related genes and confirm the diagnosis.
- Through blood tests and bone marrow biopsy test, the health practitioner can assess blood cell counts and detect the possible early signs of bone marrow failure or cancer.
Blood Stem Cell Transplant
Typically, treatment for FA primarily focuses on managing blood disorders caused by the condition, and key options include bone marrow transplant, androgen therapy that stimulates red blood cell production, synthetic growth factors that encourages bone marrow to produce more red and white blood cells, and surgery to correct physical abnormalities or repair damaged organs. However, blood stem cell transplant is considered the only curative option for patients with FA.
The procedure helps in replacing the faulty stem cell with health stem cells from a matching donor. It restores normal blood cell production. However, finding a suitable blood stem cell match remains challenging, especially in India, due to shortage of registered donors. While countries such as Germany (19%) and the United States of America (5%) have millions of registered donors, only 0.09% of Indian population of the relevant age is registered as blood stem cell donor.
It is of utmost importance to raise awareness on rare disease and condition through continuous educational programmes. This can help with early diagnosis, and improved treatment access. There are successful cases where timely interventions coupled with medical advancement helped children with FA lead healthier lives.
By Dr. Nitin Agarwal, HoD – Donor Request Management, DKMS Foundation India.
[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]
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